VNTR polymorphism of C6orf37 in Chinese population / 浙江大学学报·医学版

ABSTRACT

<p><b>OBJECTIVE</b>To identify a novel VNTR in C6orf37 and to detect the C6orf37 VNTR polymorphism distribution in Chinese population.</p><p><b>METHODS</b>RT-PCR and sequencing were conducted to identify VNTR alleles in the variable region of C6orf37.SSLP and DHPLC were applied in detecting the VNTR genotypes in 166 Chinese individuals.</p><p><b>RESULT</b>A novel VNTR sequence was found in the second exon of C6orf37, which was composed of 15 base pairs encoding 5-amino-acid (G-G-D-F-G). The repeat times ranged from 3 to 5. There were three common alleles containing three repeats (a), four repeats (b) and five repeats (c), respectively, which produced three homozygotes (a/a, b/b and c/c) and three heterozygotes (a/b, a/c and b/c). The frequency of a, b, c alleles were 0.145, 0.304, 0.551, respectively in Chinese population. Heterozygosity (H) was 0.583. Polymorphism information content (PIC) was 0.510. The screened result of DHPLC was consistent with that of SSLP.</p><p><b>CONCLUSION</b>A novel highly polymorphic VNTR in C6orf37 exists in Chinese population. DHPLC is the most efficient technique for screening VNTR polymorphism.</p>